DOID:0090103
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Huntington's disease-like 1
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Aliases:
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HDL1
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HLN1
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Huntington disease-like 1
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Huntington-like neurodegenerative disorder 1
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autosomal dominant Huntington-like neurodegenerative disorder
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early-onset prion disease with prominent psychiatric features
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Rattus norvegicus (Norway rat)
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DOID:0090103
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Huntington's disease-like 1
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Aliases:
-
HDL1
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HLN1
-
Huntington disease-like 1
-
Huntington-like neurodegenerative disorder 1
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autosomal dominant Huntington-like neurodegenerative disorder
-
early-onset prion disease with prominent psychiatric features
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Mus musculus (house mouse)
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DOID:0090103
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Huntington's disease-like 1
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Aliases:
-
HDL1
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HLN1
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Huntington disease-like 1
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Huntington-like neurodegenerative disorder 1
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autosomal dominant Huntington-like neurodegenerative disorder
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early-onset prion disease with prominent psychiatric features
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Homo sapiens (human)
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DOID:0090107
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autosomal dominant hypocalcemia 1
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Aliases:
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Rattus norvegicus (Norway rat)
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DOID:0090107
|
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autosomal dominant hypocalcemia 1
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Aliases:
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|
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Homo sapiens (human)
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DOID:0090107
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autosomal dominant hypocalcemia 1
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Aliases:
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Mus musculus (house mouse)
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DOID:0090109
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autosomal dominant hypocalcemia
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Aliases:
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|
|
Mus musculus (house mouse)
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DOID:0090109
|
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autosomal dominant hypocalcemia
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Aliases:
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Rattus norvegicus (Norway rat)
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|
DOID:0090109
|
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autosomal dominant hypocalcemia
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Aliases:
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|
|
Homo sapiens (human)
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DOID:0090110
|
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immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
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Aliases:
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Autoimmune enteropathy type 1
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DMSD
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IDDM-secretory diarrhea syndrome
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IPEX
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X-linked autoimmunity-allergic dysregulation syndrome
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XLAAD
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XPID
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autoimmunity-immunodeficiency syndrome, X-linked
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diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea
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diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked
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immunodeficiency, polyendocrinopathy, and enteropathy, X-linked
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immunodysregulation, polyendocrinopathy, and enteropathy, X-Linked
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|
|
Mus musculus (house mouse)
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|
DOID:0090110
|
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immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
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Aliases:
-
Autoimmune enteropathy type 1
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DMSD
-
IDDM-secretory diarrhea syndrome
-
IPEX
-
X-linked autoimmunity-allergic dysregulation syndrome
-
XLAAD
-
XPID
-
autoimmunity-immunodeficiency syndrome, X-linked
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diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea
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diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked
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immunodeficiency, polyendocrinopathy, and enteropathy, X-linked
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immunodysregulation, polyendocrinopathy, and enteropathy, X-Linked
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Homo sapiens (human)
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DOID:0090111
|
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PCWH syndrome
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Aliases:
-
Neurologic Waardenburg-Shah syndrome
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PCWH
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Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
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Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome
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|
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Mus musculus (house mouse)
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|
DOID:0090111
|
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PCWH syndrome
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Aliases:
-
Neurologic Waardenburg-Shah syndrome
-
PCWH
-
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
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Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome
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|
Rattus norvegicus (Norway rat)
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|
DOID:0090111
|
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PCWH syndrome
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Aliases:
-
Neurologic Waardenburg-Shah syndrome
-
PCWH
-
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
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Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome
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|
Xenopus tropicalis (tropical clawed frog)
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DOID:0090111
|
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PCWH syndrome
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Aliases:
-
Neurologic Waardenburg-Shah syndrome
-
PCWH
-
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
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Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome
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Homo sapiens (human)
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DOID:0090113
|
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RIDDLE syndrome
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Aliases:
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RNF168 deficiency
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Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome
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Homo sapiens (human)
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DOID:0090114
|
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Sorsby's fundus dystrophy
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Aliases:
-
SFD
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hemorrhagic macular dystrophy
-
pseudoinflammatory fundus dystrophy of Sorsby
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|
|
Homo sapiens (human)
|
|
DOID:0090114
|
-
Sorsby's fundus dystrophy
-
Aliases:
-
SFD
-
hemorrhagic macular dystrophy
-
pseudoinflammatory fundus dystrophy of Sorsby
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|
|
Caenorhabditis elegans
|
|
DOID:0090114
|
-
Sorsby's fundus dystrophy
-
Aliases:
-
SFD
-
hemorrhagic macular dystrophy
-
pseudoinflammatory fundus dystrophy of Sorsby
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|
|
Mus musculus (house mouse)
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|
DOID:0090115
|
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spinocerebellar ataxia with axonal neuropathy 1
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Aliases:
-
SCAN1
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autosomal recessive spinocerebellar ataxia with axonal neuropathy 1
-
spinocerebellar ataxia with axonal neuropathy type 1
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|
|
Homo sapiens (human)
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|
DOID:0090116
|
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spondylocarpotarsal synostosis syndrome
-
Aliases:
-
SCT
-
congenital scoliosis with unilateral unsegmented bar
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congenital synspondylism
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spondylocarpotarsal syndrome
-
spondylocarpotarsal synostosis
-
vertebral fusion with carpal coalition
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|
|
Mus musculus (house mouse)
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|
DOID:0090116
|
-
spondylocarpotarsal synostosis syndrome
-
Aliases:
-
SCT
-
congenital scoliosis with unilateral unsegmented bar
-
congenital synspondylism
-
spondylocarpotarsal syndrome
-
spondylocarpotarsal synostosis
-
vertebral fusion with carpal coalition
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|
|
Homo sapiens (human)
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|
DOID:0090117
|
-
thiamine-responsive megaloblastic anemia syndrome
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Aliases:
-
Rogers syndrome
-
THMD1
-
TRMA
-
thiamine metabolism dysfunction syndrome 1
-
thiamine-responsive anaemia syndrome
-
thiamine-responsive anemia syndrome
-
thiamine-responsive megaloblastic anaemia syndrome
-
thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness
-
thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness
-
thiamine-responsive myelodysplasia
|
|
|
Caenorhabditis elegans
|
|
DOID:0090117
|
-
thiamine-responsive megaloblastic anemia syndrome
-
Aliases:
-
Rogers syndrome
-
THMD1
-
TRMA
-
thiamine metabolism dysfunction syndrome 1
-
thiamine-responsive anaemia syndrome
-
thiamine-responsive anemia syndrome
-
thiamine-responsive megaloblastic anaemia syndrome
-
thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness
-
thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness
-
thiamine-responsive myelodysplasia
|
|
|
Mus musculus (house mouse)
|
|
DOID:0090117
|
-
thiamine-responsive megaloblastic anemia syndrome
-
Aliases:
-
Rogers syndrome
-
THMD1
-
TRMA
-
thiamine metabolism dysfunction syndrome 1
-
thiamine-responsive anaemia syndrome
-
thiamine-responsive anemia syndrome
-
thiamine-responsive megaloblastic anaemia syndrome
-
thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness
-
thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness
-
thiamine-responsive myelodysplasia
|
|
|
Homo sapiens (human)
|
|